遗传性血小板病7例临床分析  

CLINICAL FEATURES OF HEREDITARY PLATELET DISEASE:AN ANALYSIS OF 7 CASES

作　　者：高振亮 徐龙强[2] 于水[3] 牟文凤[3] 李胜军 王笑峰[1] GAO Zhenliang;XU Longqiang;YU Shui;MU Wenfeng;LI Shengjun;WANG Xiaofeng(Department of Pathogenic Biology,School of Basic Medicine,Qing-dao University,Qingdao 266071,China)

机构地区：[1]青岛大学基础医学院病原生物学系,山东青岛266071 [2]青岛大学附属医院检验科 [3]青岛大学附属妇女儿童医院检验科

出　　处：《精准医学杂志》2022年第5期437-440,446,共5页Journal of Precision Medicine

基　　金：青岛市市南区科技局项目(2020-2-006-YY)。

摘　　要：目的探讨遗传性血小板病患儿的临床表现、诊断方法和基因特征。方法对我院2018年5月-2020年8月收治的7例遗传性血小板病患儿的临床资料进行回顾性分析,并结合相关文献资料,总结该病的临床特征、诊断方法和基因特征,为临床诊断提供帮助。结果7例患儿中1例血小板数量正常,6例血小板数量减少。大部分患儿临床表现为皮肤瘀点瘀斑和鼻出血不止,虽然丙种球蛋白、糖皮质激素治疗有效,但是激素减量过程中血小板不能维持。7例患儿中2例为MYH 9基因相关性疾病,1例为血小板异常型出血性病17型,4例为WISKOTT-ALDRICH综合征。基因测序结果显示,2例MYH 9基因突变类型分别为c.5521G>A和c.2559_2560insATGATGGCCAAGGAGGAGGAG,1例GFI1B基因突变为c.100+1G>A、c.923T>C,5例WAS基因突变分别为c.1378C>T、c.1301delT、c.37C>T、c.273G>A和p.R308Kfs*28。结论遗传性血小板病通过临床表现和常规实验室诊断不易与其他血小板疾病进行鉴别,自幼出血、反复血小板减少或血小板功能异常的患者应尽早进行基因筛查,以避免漏诊或误诊。Objective To investigate the clinical manifestations,diagnostic methods,and genetic characteristics of children with hereditary platelet disease.Methods A retrospective analysis was performed for the clinical data of 7 children with hereditary platelet disease who were admitted from May 2018 to August 2020,and the clinical features,diagnostic methods,and genetic characteristics of this disease were summarized with reference to the relevant literature,so as to provide help for clinical diagnosis.Results Of all 7 children,1 had normal platelet count,and the other 6 had thrombocytopenia.Most children had the cli-nical manifestations of skin petechiae/ecchymoses and nosebleed,and although the treatment with gamma globulin and glucocorticoids was effective,platelet count could not be maintained during the course of hormone reduction.Among these 7 children,2 had MYH 9-related diseases,1 had platelet-type bleeding disorder-17,and 4 had WISKOTT-ALDRICH syndrome.Gene sequencing showed that the 2 children with MYH 9-related diseases had the mutations of c.5521G>A and c.2559_2560insATGATGGCCAA-GGAGGAGGAG,respectively,in the MYH 9 gene,the child with platelet-type bleeding disorder-17 had the mutations of c.100+1G>A and c.923T>C in the GFI1B gene,and the 5 children with WISKOTT-ALDRICH syndrome had the mutations of c.1378C>T,c.1301delT,c.37C>T,c.273G>A,and p.r308k.fs*28,respectively,in the WAS gene.Conclusion It is difficult to distinguish hereditary platelet disease from other platelet diseases based on clinical manifestations and routine laboratory diagnosis,and genetic screening should be performed for children with bleeding,recurrent thrombocytopenia or abnormal platelet function since childhood as soon as possible to avoid missed diagnosis or misdiagnosis.

关 键 词：血小板疾病 遗传性疾病 先天性 基因检测 突变 体征和症状 诊断 

分 类 号：R725.58[医药卫生—儿科]